SUPR
Karolinska Undiagnosed Hackathon
Dnr:

sens2023014

Type:

NAISS SENS

Principal Investigator:

Angelica Maria Delgado Vega

Affiliation:

Karolinska Institutet

Start Date:

2023-05-03

End Date:

2024-06-01

Primary Classification:

30107: Medical Genetics

Allocation

  • Castor /proj/nobackup at UPPMAX: 70000 GiB
  • Cygnus /proj/nobackup at UPPMAX: 70000 GiB
  • Castor /proj at UPPMAX: 128 GiB
  • Cygnus /proj at UPPMAX: 128 GiB
  • Bianca at UPPMAX: 100 x 1000 core-h/month

Abstract

The Karolinska Undiagnosed Diseases Program (Karolinska Institute - Rare Diseases group) is arranging an Undiagnosed Hackathon during 17-18/June 2023. The project is part of the large national Genomic Medicine Sweden Rare Diseases initiative (Dnr 2019-04746), which aims to ensure that all patients in Sweden with a suspected rare genetic disease have access to genomic tests in order to reach a diagnosis. New techniques for gene sequencing make it possible to detect genetic variants that elude diagnosis with traditional methods. For this Undiagnosed Hackathon, we will generate whole genome and transcriptome data with short and long reads sequencing technologies from 10 individuals with rare unsolved diseases. Samples are being sequenced at Clinical Genomics SciLIfeLab Stockholm and Uppsala and are expected to be ready by the end of April. We need temporary storage and mainly computing capacity to analyze and process all the data before the Hackathon.